154 results
To study oxidative metabolism in arm muscles of children and adults with SMA type 3 by using 31-Phosphorus Magnetic Resonance Spectroscopy.
Primary objective: Response to trametinib treatment defined as a tumor volume decreases from baseline of >=20%, monitored by using volumetric MRI analysis. Secondary objectives are: patient reported outcomes of pain and disability and quality…
The objective of this proposal is to determine the effect of Lamotrigine on cognitive functioning and neurophysiology in adolescents with NF1.
1. To investigate the size of the HCHWA-D population by identifying all (possible) mutation carriers and their relatives. 2. Study the genealogy and natural disease history of these carriers.3. Get insight in possible genetic, environmental and…
The general aim of this study is to investigate if the early markers seen in presymptomatic patients predict progression of the disease. Furthermore, we can study if the disease markers we found in the mutation carriers predict disease severity.
Primary objectives:* To improve the understanding of alterations in the visual pathway in patients with HD in different disease stages.* To investigate possible changes in brain function and structure in rest and in response to visual stimulation in…
-Evaluate the safety and efficacy of allogeneic hematopoietic stem cell transplantation (allo-HSCT) in male subjects <= 17 years of age with cerebral adrenoleukodystrophy (CALD)
* To investigate oculomotor and vestibular activity in individuals with RTT. * To compare oculomotor and vestibular activity with more functional eye gaze and communication skills. * To compare oculomotor and vestibular activity with severity of…
The objective is to research the psychometric properties (feasability, reliability and validity) of the Zuidwester Balans Schaal.
The primary objectives is to determine the difference in cortical inhibition and cortical plasticity between NF1 patients and unaffected controls.
(I) Compare shoulder loads estimated with musculoskeletal simulations, stability and associated muscular effort of subjects with FSHD and healthy controls during the performance of standardized upper extremity tasks with and without an arm support…
The primary objective of this study is to evaluate upper extremity and trunk function in persons with SMA in different stages of the disease using 3D movement analysis, muscle force measurements, surface electromyography and activity scales. The…
Primary objective:To assess the efficacy of PXT3003 compared to Placebo on the disability measured by the ONLS score in CMT1A patients treated for 15 months.Secondary objectives:- To assess the efficacy of PXT3003 compared to Placebo on clinical and…
Primary1) Identify a selection of Child Brain Lab assessments that can serve as clinically relevant and feasible outcome measures for an anticipated gene therapy intervention trial in children & adults with calcium-related synaptopathies2)…